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Full TextIssue DateTitleAuthor(s)
2011Incidental prenatal diagnosis of sex chromosome aneuploidies: health, behavior, and fertility.Pieters, J.J.; Kooper, A.J.A.; Geurts van Kessel, A.H.M.; Braat, D.D.M.; Smits, A.P.T.
2011Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in miceHunsaker, M.R.; Greco, C.M.; Spath, M.A.; Smits, A.P.T.; Navarro, C.S.; Tassone, F.; Kros, J.M.; Severijnen, L.A.; Berry-Kravis, E.M.; Berman, R.F.; Hagerman, P.J.; Willemsen, R.; Hagerman, R.J.; Hukema, R.K.
2011Intra-individual stability over time of standardized anti-Mullerian hormone in FMR1 premutation carriersSpath, M.A.; Feuth, T.; Allen, E.G.; Smits, A.P.T.; Yntema, H.G.; Geurts van Kessel, A.H.M.; Braat, D.D.M.; Sherman, S.L.; Thomas, C.M.G.
2011Predictors and risk model development for menopausal age in fragile X premutation carriersSpath, M.A.; Feuth, A.B.; Smits, A.P.T.; Yntema, H.G.; Braat, D.D.M.; Thomas, C.M.G.; Geurts van Kessel, A.H.M.; Sherman, S.L.; Allen, E.G.
2011Parents' perspectives on the unforeseen finding of a fetal sex chromosomal aneuploidyPieters, J.J.; Kooper, A.J.A.; Eggink, A.J.; Verhaak, C.M.; Otten, B.J.; Braat, D.D.M.; Smits, A.P.T.; Leeuwen, E. van
2010A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: a case report.Mundhofir, F.E.P.; Kooper, A.J.A.; Winarni, T.I.; Smits, A.P.T.; Faradz, S.; Hamel, B.C.J.
2010X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers.Spath, M.A.; Nillesen, W.M.; Smits, A.P.T.; Feuth, A.B.; Braat, D.D.M.; Geurts van Kessel, A.H.M.; Yntema, H.G.
2010Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis.Faas, B.H.W.; Burgt, C.J.A.M. van der; Kooper, A.J.A.; Pfundt, R.; Hehir, J.Y.; Smits, A.P.T.; Leeuw, N. de
2009Parent's attitudes towards full-scale prenatal testing for genetic disorders.Pieters, J.J.; Kooper, A.J.A.; Smits, A.P.T.; Vries, J. de
2009Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification.Kooper, A.J.A.; Faas, B.H.W.; Feuth, A.B.; Creemers, J.W.T.; Zondervan, H.H.; Boekkooi, P.F.; Quartero, R.W.; Rijnders, R.J.; Burgt, C.J.A.M. van der; Geurts van Kessel, A.H.M.; Smits, A.P.T.
2008Alfafoetoprotene in vruchtwater voor de detectie van neuralebuisdefecten: beperkte meerwaarde boven de 20-weken-echo; retrospectief onderzoekKooper, A.J.A.; Smits, A.P.T.; Feuth, A.B.; Rijnders, R.J.P.
2008Alfafoetoproteïnebepaling in vruchtwater voor de detectie van neuralebuisdefecten: beperkte meerwaarde boven de 20-wekenecho; retrospectief onderzoek.Kooper, A.J.A.; Smits, A.P.T.; Feuth, A.B.; Burgt, I. van der; Zondervan, H.A.; Quartero, R.W.P.; Boekkooi, P.F.; Rijnders, R.J.P.; Creemers, J.W.T.; Thomas, C.M.G.
2008Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities.Faas, B.H.W.; Nillesen, W.; Vermeer, S.; Weghuis, D.O.; Leeuw, N. de; Smits, A.P.T.; Ravenswaaij-Arts, C.M.A. van
2008Multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells.Kooper, A.J.A.; Faas, B.H.W.; Kater-Baats, E.; Feuth, T.; Janssen, J.C.; Burgt, I. van der; Lotgering, F.K.; Geurts van Kessel, A.H.M.; Smits, A.P.T.
2008[Alpha-foetoprotein assessment in amniotic fluid for the detection of neural tube defects: limited added value beyond week 20 ultrasound; retrospective study]Kooper, A.J.A.; Smits, A.P.T.; Feuth, A.B.; Burgt, I. van der; Zondervan, H.A.; Quartero, R.W.P.; Boekkooi, P.F.; Rijnders, R.J.P.; Creemers, J.W.T.; Thomas, C.M.G.
2007CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1.Winnepenninckx, B.; Debacker, K.; Ramsay, J.; Smeets, D.F.C.M.; Smits, A.P.T.; FitzPatrick, D.R.; Kooy, R.F.
2007Fetal anomaly scan potentially will replace routine AFAFP assays for the detection of neural tube defects.Kooper, A.J.A.; Bruijn, D. de; Ravenswaaij-Arts, C.M.A. van; Faas, B.H.W.; Creemers, J.W.T.; Thomas, C.M.G.; Smits, A.P.T.
2006Lysosomal storage diseases in non-immune hydrops fetalis pregnancies.Kooper, A.J.A.; Janssens, P.M.W.; Groot, A.N.J.A. de; Liebrand-van Sambeek, M.L.F.; Berg, C.J.M.G. van den; Tan-Sindhunata, G.B.; Berg, P.P. van den; Bijlsma, E.K.; Smits, A.P.T.; Wevers, R.A.
2004[Hydrops fetalis as an indication for a systematic investigation into the presence of lysosomal storage diseases]Janssens, P.M.W.; Groot, A.N.J.A. de; Jong, J.G.N. de; Liebrand-van Sambeek, M.L.F.; Smits, A.P.T.; Wevers, R.A.
2003Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis.Willemsen, R.; Smits, A.P.T.; Severijnen, L.A.; Jansen, M.; Jacobs, A.J.M; Bruyn, E.E.J. De; Oostra, B.A.
1998Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24Vleuten, A.J.W. van der; Ravenswaaij-Arts, C.M.A. van; Frijns, C.J.M.; Smits, A.P.T.; Hageman, G.; Padberg, G.W.; Kremer, H.
1997At least nine cases of trisomy 11q23->qter in one generation as a result of familial t(11;13) translocationSmeets, D.F.C.M.; Ravenswaaij-Arts, C.M.A. van; Pater, J.M. de; Gerssen-Schoorl, K.B.J.; Hemel, J.O. van; Janssen, A.H.; Smits, A.P.T.
1996Familial X-linked mental retardation and isolated growth hormone deficiency : clinical and molecular findingsHamel, B.C.J.; Smits, A.P.T.; Otten, B.J.; Helm, L.J.M. van den; Ropers, H.H.; Mariman, E.C.M.
1996A gene for hereditary non-chromaffin paragangliomas, a disorder subject to genomic imprinting, maps at 11q13.1Mariman, E.C.M.; Beersum, S.E.C. van; Cremers, C.W.R.J.; Smits, A.P.T.; Ropers, H.H.
1996A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28Hamel, B.C.J.; Kremer, J.M.J.; Wesby-van Swaay, E.; Helm, L.J.M. van den; Smits, A.P.T.; Oostra, B.A.; Ropers, H.H.; Mariman, E.C.M.
1996Mental status of females with a FMR1 gene full mutationVries, B.B. de; Wiegers, A.M.; Smits, A.P.T.; Mohkamsing, S.; Duivenvoorden, H.J.; Fryns, J.P.; Curfs, L.M.G; Halley, D.J.; Oostra, B.A.; Ouweland, A.M.W. van den; Niermeijer, M.F.
1995Hotspot for Deletions in the Cgg Repeat Region of Fmr1 in Fragile-X PatientsDegraaff, E.; Rouillard, P.; Willems, P.J.; Smits, A.P.T.; Rousseau, F.; Oostra, B.A.
1995Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patientsGraaff, E. de; Rouillard, P.; Willems, P.J.; Smits, A.P.T.; Rousseau, F.; Oostra, B.A.
1995Een gen voor glomustumoren ligt op 11q12-q13.1 en is onderhevig aan genomische 'imprinting'Mariman, E.C.M.; Beersum, S.E.C. van; Cremers, C.W.R.J.; Smits, A.P.T.; Ropers, H.H.
1995Normal phenotype in two brothers with a full FMR1 mutationSmeets, H.J.M.; Smits, A.P.T.; Verheij, C.E.; Theelen, J.P.G.; Willemsen, R.; Burgt, I. van der; Hoogeveen, A.T.; Oosterwijk, J.C.; Oostra, B.A.

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